MGI phenotypes (allele matching)
C3H101H-Col3a1Tsk2/H
| Status | Available to order |
| EMMA ID | EM:02195 |
| International strain name | C3H101H-Col3a1Tsk2/H |
| Alternative name | Tsk2 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Col3a1Tsk2 |
| Gene/Transgene symbol | Col3a1 |
Information from provider
| Provider | Jo Peters |
| Provider affiliation | Institute of Hearing Research, MRC (Medical Research Council) |
| Phenotypic information | Homozygotes probably die prenatally. Heterozygotes can be recognized at 1 to 2 weeks of age by tightness of the skin over the shoulders when picked up. No other abnormality was detected and the mice are fully viable and fertile. Histological examination of the skin of these mice reveals accumulation of collagen and mononuclear cell infiltration in dermis and adipose tissue. An increased collagen content is found biochemically, and steady-state levels of Col1a1 mRNA. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Acrogeria / Orphanet_2500
- Vascular Ehlers-Danlos syndrome / Orphanet_286
MGI phenotypes (gene matching)
- abnormal intestine morphology / MGI
- abnormal liver morphology / MGI
- abnormal lung morphology / MGI
- tight skin / MGI
- skin lesions / MGI
- thick dermal layer / MGI
- decreased body size / MGI
- abnormal blood vessel morphology / MGI
- abnormal skin morphology / MGI
- premature death / MGI
- increased vasoconstriction / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- aortic dissection / MGI
- skin inflammation / MGI
- muscle phenotype / MGI
- cellular phenotype / MGI
- cardiovascular system phenotype / MGI
- increased systemic arterial systolic blood pressure / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal aorta elastic tissue morphology / MGI
- abnormal aorta smooth muscle morphology / MGI
- abnormal aorta wall morphology / MGI
- skin fibrosis / MGI
- abnormal subendocardium layer morphology / MGI
- postnatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- adipose tissue inflammation / MGI
Literature references
- The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene.;Long Kristen B, Li Zhenghui, Burgwin Chelsea M, Choe Susanna G, Martyanov Viktor, Sassi-Gaha Sihem, Earl Josh P, Eutsey Rory A, Ahmed Azad, Ehrlich Garth D, Artlett Carol M, Whitfield Michael L, Blankenhorn Elizabeth P, ;2015;The Journal of investigative dermatology;135;718-27; 25330296
- Tight skin-2 (Tsk-2);Peters J, Ball ST;1986;Mouse News Lett.;74;91-2;